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Official Full Name: Cbl proto-oncogene
Also known as: CBL2; NSLL; C-CBL; RNF55; FRA11B
This gene is a proto-oncogene encoding RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required by the proteasome to degrade substrates. This protein mediates the transfer of ubiquitin from ubiquitin-conjugating enzymes (E2) to specific substrates. The protein also contains an N-terminal phosphotyrosine-binding domain that enables it to interact with many tyrosine-phosphorylated substrates and target them for proteasomal degradation. Therefore, it acts as a negative regulator in many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like dis order.